Scheie syndrome

Definition

Scheie syndrome is metabolism disease passed down through families in which the body cannot properly break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides).

The syndrome belongs to a group of diseases called mucopolysaccharidoses (MPS). Specifically, it is known as MPS I S.

Alternative Names

Mucopolysaccharidosis type I S; MPS I S

Causes

Persons with Scheie syndrome are missing a substance called lysosomal alpha-L-iduronidase. This substance, called an enzyme, helps break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides). These molecules are found throughout the body, often in mucus and in fluid around the joints.

Without the enzyme, glycosaminoglycans build up. This excess material is stored in body tissues and can damage organs, including the heart. Symptoms can range from mild to severe.

Scheie syndrome is the mildest form of mucopolysaccharidosis type 1. The syndrome is transmitted as an autosomal recessive trait. That means that both parents must pass along the defective gene for the offspring to have the disease.

Possible Complications

When to Contact a Medical Professional

Call your health care provider if you have symptoms of this disorder.

Prevention

Genetic counseling is recommended for prospective parents with a family history of Scheie syndrome. Counseling is also recommended for families who have a child with Scheie syndrome, to help them understand the condition and possible treatments.